Variant report

Variant	rs73416046
Chromosome Location	chr11:9161668-9161669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9161614-9161786	K562	blood:	n/a	n/a
2	GATA3	chr11:9161573-9162024	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr11:9161572-9161999	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9108004..9116385-chr11:9156452..9162678,21	MCF-7	breast:
2	chr11:9109700..9116224-chr11:9155740..9163743,14	MCF-7	breast:
3	chr11:8983863..8986997-chr11:9158044..9162292,6	MCF-7	breast:

Variant related genes	Relation type
SCUBE2	TF binding region
ENSG00000254860	Chromatin interaction
ENSG00000175356	Chromatin interaction
ENSG00000213538	Chromatin interaction
ENSG00000175348	Chromatin interaction
ENSG00000264984	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10743100	1.00[EUR][1000 genomes]
rs10743102	1.00[EUR][1000 genomes]
rs10743103	1.00[EUR][1000 genomes]
rs10840197	1.00[EUR][1000 genomes]
rs10840198	1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs12225143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1809855	1.00[EUR][1000 genomes]
rs1874821	1.00[EUR][1000 genomes]
rs2016375	1.00[EUR][1000 genomes]
rs4243946	1.00[EUR][1000 genomes]
rs4331093	1.00[EUR][1000 genomes]
rs4420271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4450172	1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	1.00[EUR][1000 genomes]
rs4625467	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4644643	1.00[EUR][1000 genomes]
rs4910448	1.00[EUR][1000 genomes]
rs56306422	1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs57655359	1.00[EUR][1000 genomes]
rs58309260	1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[EUR][1000 genomes]
rs59398820	1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	1.00[EUR][1000 genomes]
rs59984721	1.00[EUR][1000 genomes]
rs60542289	1.00[EUR][1000 genomes]
rs60602151	1.00[EUR][1000 genomes]
rs60731772	1.00[EUR][1000 genomes]
rs60960132	1.00[EUR][1000 genomes]
rs61217844	1.00[EUR][1000 genomes]
rs61379640	1.00[EUR][1000 genomes]
rs61409427	1.00[EUR][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7119158	1.00[EUR][1000 genomes]
rs7119887	1.00[EUR][1000 genomes]
rs73402319	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73402323	1.00[EUR][1000 genomes]
rs73402339	1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	1.00[EUR][1000 genomes]
rs73402362	1.00[EUR][1000 genomes]
rs73402399	1.00[EUR][1000 genomes]
rs73404303	1.00[EUR][1000 genomes]
rs73404305	1.00[EUR][1000 genomes]
rs73412019	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73416044	1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7931491	1.00[EUR][1000 genomes]
rs7932136	1.00[EUR][1000 genomes]
rs7932954	1.00[EUR][1000 genomes]
rs7935518	1.00[EUR][1000 genomes]
rs7942119	1.00[EUR][1000 genomes]
rs7944130	1.00[EUR][1000 genomes]
rs7944713	1.00[EUR][1000 genomes]
rs7948651	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv526778	chr11:9159739-9185077	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9142400-9163000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9142600-9175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:9151800-9175800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr11:9152800-9175800	Strong transcription	Fetal Muscle Leg	muscle
5	chr11:9153000-9179800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:9153600-9164400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:9155000-9163000	Weak transcription	Psoas Muscle	Psoas
8	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:9156000-9163000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:9156800-9167200	Strong transcription	Placenta	Placenta
11	chr11:9157000-9180000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:9158000-9183200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:9158400-9164600	Strong transcription	GM12878-XiMat	blood
14	chr11:9158600-9165600	Strong transcription	Primary hematopoietic stem cells	blood
15	chr11:9158800-9161800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:9158800-9162400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:9158800-9162400	Genic enhancers	A549	lung
18	chr11:9158800-9162600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:9158800-9165000	Strong transcription	Fetal Brain Female	brain
20	chr11:9158800-9166400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:9158800-9166600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:9159000-9162000	Enhancers	HMEC	breast
23	chr11:9159000-9162200	Genic enhancers	Muscle Satellite Cultured Cells	--
24	chr11:9159000-9162400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:9159000-9162400	Genic enhancers	HepG2	liver
26	chr11:9159000-9163200	Genic enhancers	HUVEC	blood vessel
27	chr11:9159000-9168000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:9159000-9169400	Strong transcription	Fetal Intestine Small	intestine
29	chr11:9159000-9170200	Genic enhancers	Brain Hippocampus Middle	brain
30	chr11:9159000-9175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:9159200-9161800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:9159200-9161800	Enhancers	Esophagus	oesophagus
33	chr11:9159200-9161800	Genic enhancers	NHDF-Ad	bronchial
34	chr11:9159200-9162000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:9159200-9163200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:9159400-9161800	Genic enhancers	Lung	lung
37	chr11:9159400-9162200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:9159400-9163000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr11:9159400-9170200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:9159400-9174400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:9159600-9161800	Genic enhancers	Stomach Smooth Muscle	stomach
42	chr11:9159600-9161800	Genic enhancers	NH-A	brain
43	chr11:9159600-9162200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
44	chr11:9159600-9162400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:9159600-9162400	Genic enhancers	Osteobl	bone
46	chr11:9159600-9179400	Strong transcription	Primary T cells from cord blood	blood
47	chr11:9159800-9161800	Genic enhancers	Spleen	Spleen
48	chr11:9159800-9162400	Genic enhancers	Liver	Liver
49	chr11:9159800-9162400	Genic enhancers	NHLF	lung
50	chr11:9159800-9163200	Strong transcription	Brain Cingulate Gyrus	brain

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